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Results for "COL28A1"

Variant Events: 25

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
COL28A1     7-0256-003chr7:
7520211-7520211
CAintronicDe novo--Yuen2017 G
COL28A1     2-0003-003chr7:
7450673-7450673
GTintronicDe novo--Yuen2017 G
COL28A1     1-0445-003chr7:
7464400-7464400
CTintronicDe novo--Yuen2017 G
COL28A1     1-0661-003chr7:
7585531-7585531
AGintergenicDe novo--Yuen2017 G
COL28A1     Li2017:36chr7:
7545681-7545682
TGTexonicUnknownframeshift deletionNM_001037763c.989delCp.P330fs--Li2017 T
COL28A1     Li2017:21825chr7:
7529089-7529089
CTsplicingUnknownsplicing17.198.427E-6Li2017 T
COL28A1     Li2017:20107chr7:
7412852-7412852
TTAexonicUnknownframeshift insertionNM_001037763c.2684dupTp.V895fs-2.485E-5Li2017 T
COL28A1     AU3124304chr7:
7529576-7529576
TCintronicDe novo--Yuen2017 G
COL28A1     A12chr7:
7493097-7493097
CTexonicDe novononsynonymous SNVNM_001037763c.G1414Ap.A472T25.21.0E-4Wu2018 G
COL28A1     14137.p1chr7:
7410482-7410482
ACexonicDe novononsynonymous SNVNM_001037763c.T2940Gp.I980M16.16-Ji2016 E
Krumm2015 E
Satterstrom2020 E
COL28A1     A29chr7:
7545682-7545683
GGGexonicDe novoframeshift deletionNM_001037763c.988delCp.P330fs--Wu2018 G
COL28A1     1-0112-003chr7:
7408321-7408321
GAintronicDe novo--Yuen2017 G
COL28A1     Li2017:23092chr7:
7421215-7421215
CTexonicUnknownnonsynonymous SNVNM_001037763c.G2165Ap.G722D20.23.313E-5Li2017 T
COL28A1     2-1280-003chr7:
7444146-7444146
CAintronicDe novo--Yuen2016 G
Yuen2017 G
COL28A1     2-1163-003chr7:
7549055-7549055
GAintronicDe novo--Yuen2016 G
Yuen2017 G
COL28A1     iHART2554chr7:
7557470-7557470
TAsplicingPaternalsplicing16.361.0E-4Ruzzo2019 G
COL28A1     iHART1264chr7:
7420320-7420320
GAexonicMaternalstopgainNM_001037763c.C2293Tp.Q765X36.09.942E-5Ruzzo2019 G
COL28A1     2-0003-004chr7:
7450673-7450673
GTintronicDe novo--Yuen2017 G
COL28A1     Li2017:17529chr7:
7491985-7491985
GAexonicUnknownstopgainNM_001037763c.C1474Tp.R492X37.08.299E-6Li2017 T
COL28A1     1-0985-003chr7:
7397936-7397936
AGdownstreamDe novo--Yuen2017 G
COL28A1     3-0270-000chr7:
7514248-7514248
GCexonicDe novostopgainNM_001037763c.C1286Gp.S429X39.0-Tammimies2015 E
COL28A1     DEASD_1045_001chr7:
7516858-7516858
GCintronicDe novo--Satterstrom2020 E
COL28A1     1-0079-008chr7:
7459577-7459577
GAexonicDe novononsynonymous SNVNM_001037763c.C2006Tp.P669L14.33-Yuen2017 G
COL28A1     1-0433-004chr7:
7467933-7467933
CTintronicDe novo--Yuen2017 G
COL28A1     A09006-2chr7:
7477024-7477024
CAsplicingUnknownsplicing15.65-Li2017 T
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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